Background: Despite the high prevalence of sickle cell disease in Africa, a neonatal screening programme is available in only a few countries in the sub-Saharan region.
Aim: To describe our experience of a pioneer study on 31 304 newborns screened systematically in the Democratic Republic of the Congo.
Methods: The prevalence of haemoglobinopathies was determined by a thin-layer isoelectric focusing method on dry filter-paper samples.
Results: Of the 31 204 newborns screened by isoelectric focusing, 5276 (16.9%) displayed sickle cell trait and 428 (1.4%) were homozygous for haemoglobin S. No statistical differences were observed in the different ethno-linguistic groups, but some tribes displayed a higher prevalence of the βS gene, attributable to a higher prevalence of malaria, and a greater frequency of haemoglobin S homozygotes, in part attributable to an endogamic marriage system.
Conclusion: The neonatal screening programme has now been introduced in the Democratic Republic of the Congo, but the main challenges are to track all the new cases for a confirmatory test and to initiate early management.
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Competing interests: None.
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